Variant report

Variant	rs6517468
Chromosome Location	chr21:39837386-39837387
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11909285	0.85[CHB][hapmap];0.88[YRI][hapmap]
rs17193990	0.85[CHB][hapmap]
rs2212931	0.81[EUR][1000 genomes]
rs2836426	0.96[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834098	chr21:39691898-39845254	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39811200-39847400	Weak transcription	Right Ventricle	heart
2	chr21:39812800-39844600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:39831200-39837800	Weak transcription	Aorta	Aorta
4	chr21:39832200-39839200	Weak transcription	Fetal Thymus	thymus
5	chr21:39833200-39842800	Weak transcription	Esophagus	oesophagus
6	chr21:39833400-39838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:39835200-39838400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:39835600-39837800	Strong transcription	Primary hematopoietic stem cells	blood
9	chr21:39835600-39840000	Weak transcription	Spleen	Spleen
10	chr21:39835800-39839800	Weak transcription	Lung	lung
11	chr21:39835800-39842800	Weak transcription	Left Ventricle	heart
12	chr21:39836000-39838400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:39836000-39844400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:39836400-39837600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:39836400-39838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:39836400-39841000	Strong transcription	HUVEC	blood vessel
17	chr21:39836600-39842600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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